Primary Identifier | MGI:1857344 | Allele Type | Targeted |
Attribute String | Null/knockout | Gene | Sod2 |
Transmission | Germline | Strain of Origin | C57BL/6J x (Rb(11.16)2H x Rb(16.17)32Lub)F1 |
Is Recombinase | false | Is Wild Type | false |
description | Homozygous mutant mice die within 10 days after birth. They show dilated cardiomyopathy, lipid accumulation in skeletal muscles and in the liver, and acidosis. Succinate dehydrogenase and aconitase activities are severely reduced, especially in the heart. SOD2 is needed to protect mitochondrial enzymes susceptible to superoxide inactivation (J:29899). |
molecularNote | A neomycin resistance cassette replaced exon 3 which encodes 39 amino acids involved in homodimerization, tetramer formation, and manganese binding. RT-PCR detected a product from brain RNA that was 117 bp shorter in homozygous mutant mice than in wild type mice. SOD2 activity was not detected in homozygous mutant mice (tissue not specified) and was reduced in brain, heart, liver, and kidney of heterozygous mice. |